TP53 Polymorphism Contributes to the Susceptibility to Bipolar Disorder but Not to Schizophrenia in the Chinese Han Population

Yang, Jialei; Wu, Xulong; Huang, Jiao; Chen, Zhaoxia; Huang, Guifeng; Guo, Xiaokui; Zhu, Lulu; Su, Li

doi:10.1007/s12031-019-01330-y

Cited by 11 publications

(4 citation statements)

References 65 publications

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“…Polymorphisms in SREBF2 also have been associated with schizophrenia (28). Other implicated TFs, including TP53 and YY1, are better known for their roles in cancer, but they have been implicated in neurodevelopment and psychiatric disease as well (44)(45)(46)(47)(48). The association of these TFs with neuronal development and disease provides further validation for the role of our active enhancer regions in important neuronal pathways.…”

Section: Discussionmentioning

confidence: 99%

Validation of Enhancer Regions in Primary Human Neural Progenitor Cells using Capture STARR-seq

Gaynor-Gillett,

Cheng,

Shi

et al. 2024

Preprint

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Genome-wide association studies (GWAS) and expression analyses implicate noncoding regulatory regions as harboring risk factors for psychiatric disease, but functional characterization of these regions remains limited. We performed capture STARR-sequencing of over 78,000 candidate regions to identify active enhancers in primary human neural progenitor cells (phNPCs). We selected candidate regions by integrating data from NPCs, prefrontal cortex, developmental timepoints, and GWAS. Over 8,000 regions demonstrated enhancer activity in the phNPCs, and we linked these regions to over 2,200 predicted target genes. These genes are involved in neuronal and psychiatric disease-associated pathways, including dopaminergic synapse, axon guidance, and schizophrenia. We functionally validated a subset of these enhancers using mutation STARR-sequencing and CRISPR deletions, demonstrating the effects of genetic variation on enhancer activity and enhancer deletion on gene expression. Overall, we identified thousands of highly active enhancers and functionally validated a subset of these enhancers, improving our understanding of regulatory networks underlying brain function and disease.

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Section: Discussionmentioning

confidence: 99%

Validation of Enhancer Regions in Primary Human Neural Progenitor Cells using Capture STARR-seq

Gaynor-Gillett,

Cheng,

Shi

et al. 2024

Preprint

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“…To test the association between p53 and SCZ, the researchers analyzed 286 SCZ cases and 264 controls, and the results confirmed a significant association between TP53 and SCZ ( Ni et al, 2005 ). However, the authors also showed that the p53 polymorphisms rs1042522 and rs17879353 contributed to susceptibility to bipolar disorder but not to SCZ in the Chinese Han population ( Yang et al, 2019 ). In a mouse model of bilateral ovariectomy, when mice had fewer neurons in areas of the prefrontal cortex, hippocampus, or amygdala, these mice exhibited depression-like and dementia-like behavior.…”

Section: P53 and Other Cns Diseasesmentioning

confidence: 97%

New Insights into the Roles of p53 in Central Nervous System Diseases

Zhang

et al. 2023

International Journal of Neuropsychopharmacology

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The transcription factor p53, a widely accepted tumor suppressor, regulates the expression of many oncogenes and their downstream signaling pathways, resulting in a series of biological outcomes. Mutations and deletions of the p53 gene often occur in tumor tissues and are involved in their development. In addition to its role in tumors, p53 has a widespread expression in the brain and participates in most cell processes, such as dendrite formation, oxidative stress, apoptosis, autophagy, DNA repair and cell cycle arrest. Therefore, abnormalities in p53 and its related signaling pathways play important roles in the diagnosis and treatment of central nervous system (CNS) diseases. This review mainly discusses the latest findings regarding the role of p53 in some CNS diseases, such as brain tumors, Alzheimer's disease, Parkinson's disease, autism, epilepsy, spinocerebellar ataxia and so on, to provide a comprehensive interpretation of the treatment of neurological diseases from a new perspective.

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“…Genetic variants in the TP53 (such as rs1042522, Arg72Pro) have been widely associated with cancer and also studied in neurological and psychiatric disorders (Yang J et al, 2019).…”

Section: Genetic Report 4 1-introductionmentioning

confidence: 99%

Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia

Rosas

Martı́nez

Coto

et al. 2021

Neurobiology of Aging

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TP53 Polymorphism Contributes to the Susceptibility to Bipolar Disorder but Not to Schizophrenia in the Chinese Han Population

Cited by 11 publications

References 65 publications

Validation of Enhancer Regions in Primary Human Neural Progenitor Cells using Capture STARR-seq

Validation of Enhancer Regions in Primary Human Neural Progenitor Cells using Capture STARR-seq

New Insights into the Roles of p53 in Central Nervous System Diseases

Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia

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